Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.450 Biomarker disease HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.420 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0086543
Disease: Cataract
Cataract 		0.120 Biomarker disease HPO
CUI: C0302314
Disease: Xanthoma
Xanthoma 		0.120 Biomarker disease HPO
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.110 Biomarker disease HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.110 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation disease CLINVAR
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 Biomarker disease HPO
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.100 CausalMutation disease CLINVAR
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 CausalMutation group CLINVAR
CUI: C0011253
Disease: Delusions
Delusions 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 Biomarker disease HPO